ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830122433
Gene: COL11A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000315491
ClinVar Variation:
283579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Gly1217_Gly1220del
CA10604533
NM_080630.4:c.3650_3661del